Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000794339 | SCV000933739 | pathogenic | not provided | 2018-08-19 | criteria provided, single submitter | clinical testing | Loss-of-function variants in AGXT are known to be pathogenic (PMID: 19479957). For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals with AGXT-related disease. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Glu281*) in the AGXT gene. It is expected to result in an absent or disrupted protein product. |